Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

↓ Direkt till sidans innehåll
↓ Direkt till sidans sekundära innehåll (sidomenyn)

Sökning: WFRF:(Alain S) > Mutation spectrum i...

LIBRIS Formathandbok (Information om MARC21)

Fältnamn	Indikatorer	Metadata
000		06081naa a2201309 4500
001		oai:gup.ub.gu.se/191134
003		SwePub
008		240528s2012 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://gup.ub.gu.se/publication/1911342 URI
024	7	a https://doi.org/10.1002/humu.220672 DOI
040		a (SwePub)gu
041		a eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Böhm, Johann4 aut
245	1 0	a Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
264		c 2012-04-04
264	1	b Hindawi Limited,c 2012
520		a Centronuclear myopathy (CNM) is a genetically heterogeneous disorder associated with general skeletal muscle weakness, type I fiber predominance and atrophy, and abnormally centralized nuclei. Autosomal dominant CNM is due to mutations in the large GTPase dynamin 2 (DNM2), a mechanochemical enzyme regulating cytoskeleton and membrane trafficking in cells. To date, 40 families with CNM-related DNM2 mutations have been described, and here we report 60 additional families encompassing a broad genotypic and phenotypic spectrum. In total, 18 different mutations are reported in 100 families and our cohort harbors nine known and four new mutations, including the first splice-site mutation. Genotype-phenotype correlation hypotheses are drawn from the published and new data, and allow an efficient screening strategy for molecular diagnosis. In addition to CNM, dissimilar DNM2 mutations are associated with Charcot-Marie-Tooth (CMT) peripheral neuropathy (CMTD1B and CMT2M), suggesting a tissue-specific impact of the mutations. In this study, we discuss the possible clinical overlap of CNM and CMT, and the biological significance of the respective mutations based on the known functions of dynamin 2 and its protein structure. Defects in membrane trafficking due to DNM2 mutations potentially represent a common pathological mechanism in CNM and CMT.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicin0 (SwePub)3022 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Clinical Medicine0 (SwePub)3022 hsv//eng
653		a Amino Acid Sequence
653		a Dynamin II
653		a chemistry
653		a genetics
653		a Genes
653		a Dominant
653		a Genetic Association Studies
653		a Humans
653		a Molecular Sequence Data
653		a Mutation
653		a Myopathies
653		a Structural
653		a Congenital
653		a diagnosis
653		a genetics
653		a Polymorphism
653		a Genetic
653		a Sequence Alignment
700	1	a Biancalana, Valérie4 aut
700	1	a Dechene, Elizabeth T4 aut
700	1	a Bitoun, Marc4 aut
700	1	a Pierson, Christopher R4 aut
700	1	a Schaefer, Elise4 aut
700	1	a Karasoy, Hatice4 aut
700	1	a Dempsey, Melissa A4 aut
700	1	a Klein, Fabrice4 aut
700	1	a Dondaine, Nicolas4 aut
700	1	a Kretz, Christine4 aut
700	1	a Haumesser, Nicolas4 aut
700	1	a Poirson, Claire4 aut
700	1	a Toussaint, Anne4 aut
700	1	a Greenleaf, Rebecca S4 aut
700	1	a Barger, Melissa A4 aut
700	1	a Mahoney, Lane J4 aut
700	1	a Kang, Peter B4 aut
700	1	a Zanoteli, Edmar4 aut
700	1	a Vissing, John4 aut
700	1	a Witting, Nanna4 aut
700	1	a Echaniz-Laguna, Andoni4 aut
700	1	a Wallgren-Pettersson, Carina4 aut
700	1	a Dowling, James4 aut
700	1	a Merlini, Luciano4 aut
700	1	a Oldfors, Anders,d 1951u Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för patologi,Institute of Biomedicine, Department of Pathology4 aut0 (Swepub:gu)xoland
700	1	a Bomme Ousager, Lilian4 aut
700	1	a Melki, Judith4 aut
700	1	a Krause, Amanda4 aut
700	1	a Jern, Christina,d 1962u Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik,Institute of Biomedicine, Department of Medical and Clinical Genetics4 aut0 (Swepub:gu)xjerch
700	1	a Oliveira, Acary S B4 aut
700	1	a Petit, Florence4 aut
700	1	a Jacquette, Aurélia4 aut
700	1	a Chaussenot, Annabelle4 aut
700	1	a Mowat, David4 aut
700	1	a Leheup, Bruno4 aut
700	1	a Cristofano, Michele4 aut
700	1	a Poza Aldea, Juan José4 aut
700	1	a Michel, Fabrice4 aut
700	1	a Furby, Alain4 aut
700	1	a Llona, Jose E Barcena4 aut
700	1	a Van Coster, Rudy4 aut
700	1	a Bertini, Enrico4 aut
700	1	a Urtizberea, Jon Andoni4 aut
700	1	a Drouin-Garraud, Valérie4 aut
700	1	a Béroud, Christophe4 aut
700	1	a Prudhon, Bernard4 aut
700	1	a Bedford, Melanie4 aut
700	1	a Mathews, Katherine4 aut
700	1	a Erby, Lori A H4 aut
700	1	a Smith, Stephen A4 aut
700	1	a Roggenbuck, Jennifer4 aut
700	1	a Crowe, Carol A4 aut
700	1	a Brennan Spitale, Allison4 aut
700	1	a Johal, Sheila C4 aut
700	1	a Amato, Anthony A4 aut
700	1	a Demmer, Laurie A4 aut
700	1	a Jonas, Jessica4 aut
700	1	a Darras, Basil T4 aut
700	1	a Bird, Thomas D4 aut
700	1	a Laurino, Mercy4 aut
700	1	a Welt, Selman I4 aut
700	1	a Trotter, Cynthia4 aut
700	1	a Guicheney, Pascale4 aut
700	1	a Das, Soma4 aut
700	1	a Mandel, Jean-Louis4 aut
700	1	a Beggs, Alan H4 aut
700	1	a Laporte, Jocelyn4 aut
710	2	a Göteborgs universitetb Institutionen för biomedicin, avdelningen för patologi4 org
773	0	t Human mutationd : Hindawi Limitedg 33:6, s. 949-59q 33:6<949-59x 1098-1004x 1059-7794
856	4	u https://europepmc.org/articles/pmc3374402?pdf=render
856	4 8	u https://gup.ub.gu.se/publication/191134
856	4 8	u https://doi.org/10.1002/humu.22067

Hitta via bibliotek

Human mutation (Sök värdpublikationen i LIBRIS)

Till lärosätets databas

Hitta mer i SwePub

Av författaren/redakt...: Böhm, Johann; Biancalana, Valé ...; Dechene, Elizabe ...; Bitoun, Marc; Pierson, Christo ...; Schaefer, Elise; visa fler...; Karasoy, Hatice; Dempsey, Melissa ...; Klein, Fabrice; Dondaine, Nicola ...; Kretz, Christine; Haumesser, Nicol ...; Poirson, Claire; Toussaint, Anne; Greenleaf, Rebec ...; Barger, Melissa ...; Mahoney, Lane J; Kang, Peter B; Zanoteli, Edmar; Vissing, John; Witting, Nanna; Echaniz-Laguna, ...; Wallgren-Petters ...; Dowling, James; Merlini, Luciano; Oldfors, Anders, ...; Bomme Ousager, L ...; Melki, Judith; Krause, Amanda; Jern, Christina, ...; Oliveira, Acary ...; Petit, Florence; Jacquette, Aurél ...; Chaussenot, Anna ...; Mowat, David; Leheup, Bruno; Cristofano, Mich ...; Poza Aldea, Juan ...; Michel, Fabrice; Furby, Alain; Llona, Jose E Ba ...; Van Coster, Rudy; Bertini, Enrico; Urtizberea, Jon ...; Drouin-Garraud, ...; Béroud, Christop ...; Prudhon, Bernard; Bedford, Melanie; Mathews, Katheri ...; Erby, Lori A H; Smith, Stephen A; Roggenbuck, Jenn ...; Crowe, Carol A; Brennan Spitale, ...; Johal, Sheila C; Amato, Anthony A; Demmer, Laurie A; Jonas, Jessica; Darras, Basil T; Bird, Thomas D; Laurino, Mercy; Welt, Selman I; Trotter, Cynthia; Guicheney, Pasca ...; Das, Soma; Mandel, Jean-Lou ...; Beggs, Alan H; Laporte, Jocelyn; visa färre...

Om ämnet

MEDICIN OCH HÄLSOVETENSKAP: MEDICIN OCH HÄLS ...; och Klinisk medicin

Artiklar i publikationen: Human mutation

Av lärosätet: Göteborgs universitet

Sök utanför SwePub

Sök vidare i:: Google; Google Book Search; Google Scholar

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

LIBRIS.kb.se